Sporting activity does not fully prevent bone demineralization at the impaired hip in athletes with amputation

There is lack of information about bone mineralization at the lumbar spine and bilateral hips of athletes with unilateral lower limb amputation. The present study assessed for the first time the areal bone mineral density at the lumbar spine and at the hip of the able and impaired leg by means of Dual-Energy X-Ray Absorptiometry using a large sample (N = 40) of male athletes. Results showed that bone demineralization in athletes with unilateral lower limb amputation is found at the impaired hip but not at the lumbar spine and may therefore be site-specific. The extent of hip demineralization was influenced by the level of amputation, with about 80% of athletes with above knee amputation and 10% of athletes with below knee amputation showing areal bone mineral density below the expected range for age. Nevertheless, a reduced percentage of fat mass and a lower fat-to-lean mass ratio in the residual impaired leg as well as a greater amount of weekly training was positively associated with bone mineralization at the impaired hip (partial correlation coefficients = 0.377-0.525, p = 0.040-0.003). Results showed that participation in adapted sport has a positive effect on bone health in athletes with unilateral lower limb amputation but is not sufficient to maintain adequate levels of bone mineralization at the impaired hip in athletes with above-knee amputation. Accordingly, physical conditioners should consider implementing sporting programs, according to the severity of the impairment, aimed at improving bone mineralization at the impaired hip and improve body composition in the residual impaired leg

The limited impact of low-volume recreational dance on three-compartment body composition and apparent bone mineral density in young girls

Recreational dance is practiced worldwide as a multidimensional physical activity with a potential for prevention of a sedentary lifestyle and overweight/obesity. This study explored in young (7-15 year; n = 21) girls the effect of long-term (>1 year) exposure to recreational (2 h/w) dancing on three-compartment body composition. Recreational dancers (RD) were compared with recreational (≤4 h/w) artistic gymnasts (RG, n = 22) and physically active young girls not involved in structured extracurricular physical activity (control; C, n = 22), adjusting for confounding variables (age, body mass, menarche). We hypothesized for RD an intermediate body composition between RG and C. The three groups had similar age and body mass index. Body composition indices in RD were intermediate between that of C and RG, but RD values were not statistically significantly different vs. C. This agreed with the not statistically significant higher energy expenditure (MET-min/w) in RD vs. C (1357.7 ± 805.32 and 1090.9 ± 596.63, p = 0.172). In conclusion, long-term recreational dance exposure at low volume had limited positive effect on body composition of young girls vs. unstructured extracurricular physical activity. Future work will explore the potential of recreational dance at higher volume (3-4 h/w) to improve body composition in young girls

Body composition and bone mineral density in athletes with a physical impairment

Background: The impact of the type and the severity of disability on whole-body and regional body composition (BC), and bone mineral density (BMD) must be considered for dietary advice in athletes with a physical impairment (PI). This study aimed to investigate the impact of the type and the severity of disability on BC, the pattern of distribution of fat mass at the regional level, and BMD in athletes with a PI. Methods: Forty-two male athletes with spinal cord injury (SCI, n = 24; age = 40.04 \ub1 9.95 years, Body Mass Index [BMI] = 23.07 \ub1 4.01 kg/m2) or unilateral lower limb amputation (AMP, n = 18; age = 34.39 \ub1 9.19 years, BMI = 22.81 \ub1 2.63 kg/m2) underwent a Dual-Energy X-Ray Absorptiometry scan. Each athlete with a PI was matched by age with an able-bodied athlete (AB, n = 42; age = 37.81 \ub1 10.31 years, BMI = 23.94 \ub1 1.8 kg/m2). Results: One-Way Analysis of Variance showed significant differences between the SCI, AMP and AB groups for percentage fat mass (%FM) (P < 0.001, eta squared = 0.440). Post-hoc analysis with Bonferroni's correction showed that athletes with SCI had significantly higher %FM vs. the AMP and AB groups (25.45 \ub1 5.99%, 21.45 \ub1 4.21% and 16.69 \ub1 2.56%, respectively; P = 0.008 vs. AMP and P < 0.001 vs. AB). The %FM was also significantly higher in the AMP vs. the AB group (P < 0.001). Whole-body BMD was negatively affected in SCI athletes, with about half of them showing osteopenia or osteoporosis. In fact, the mean BMD and T-score values in the SCI group (1.07 \ub1 0.09 g/cm2 and -1.25 \ub1 0.85, respectively) were significantly lower in comparison with the AB group (P = 0.001 for both) as well as the AMP group (P = 0.008 for both). The type of disability affected BC and BMD in the trunk, android, gynoid and leg regions in SCI athletes and the impaired leg only in AMP athletes. Conclusions: In conclusion, the type of disability and, partly, the severity of PI impact on BC and BMD in athletes with a PI. Nutritionists, sports medicine doctors, clinicians, coaches and physical conditioners should consider athletes with SCI or AMP separately. Athletes with a PI would benefit from specific nutrition and training programs taking into account the type of their disability

Complex phenotype in an Italian family with a novel mutation in SPG3A.

Mutations in the SPG3A gene represent a significant cause of autosomal dominant hereditary spastic paraplegia with early onset and pure phenotype. We describe an Italian family manifesting a complex phenotype, characterized by cerebellar involvement in the proband and amyotrophic lateral sclerosis-like syndrome in her father, in association with a new mutation in SPG3A. Our findings further widen the notion of clinical heterogeneity in SPG3A mutations

acceptance of product placement in italy effects of personality and product consumer interactions

Product placement refers to the planned and paid insertion of a branded product within a film or any other media that is capable of influencing the attitudes and the beliefs of the audience toward that specific product. The present article reports the results of two experimental studies on the attitudes of Italian consumers toward this practice. Findings show that attitudes change as a function of product type; individual differences, such as gender and age; movie watching frequency; as well as consumers' personality profiles. Product placement in movies is quite recent in Italy, since it became a legal practice only in 2004. A comparison with results from previous studies on product placement acceptance, carried out in the United States, Austria, France, China and Australia, is also discussed

Identification of bi-allelic LFNG variants in three patients and further clinical and molecular refinement of spondylocostal dysostosis 3

: Spondylocostal dysostosis (SCD), a condition characterized by multiple segmentation defects of the vertebrae and rib malformations, is caused by bi-allelic variants in one of the genes involved in the Notch signaling pathway that tunes the "segmentation clock" of somitogenesis: DLL3, HES7, LFNG, MESP2, RIPPLY2, and TBX6. To date, seven individuals with LFNG variants have been reported in the literature. In this study we describe two newborns and one fetus with SCD, who were found by trio-based exome sequencing (trio-ES) to carry homozygous (c.822-5C>T) or compound heterozygous (c.[863dup];[1063G>A]) and (c.[521G>T];[890T>G]) variants in LFNG. Notably, the c.822-5C>T change, affecting the polypyrimidine tract of intron 5, is the first non-coding variant reported in LFNG. This study further refines the clinical and molecular features of spondylocostal dysostosis 3 and adds to the numerous investigations supporting the usefulness of trio-ES approach in prenatal and neonatal settings

muography with nuclear emulsions stromboli and other projects

The muon radiography is a novel imaging technique to probe the volcanoes interior, using the capability of high energy cosmic ray muons to penetrate large thicknesses of rock. In this way it is possible to derive a 2D density map along the muon trajectory of volcanic edifices and deduce information on the variations in the rock density distribution, like those expected from dense lava conduits, or low density magma supply paths. This method is applicable also to study geological objects as glaciers, faults, oil underground reservoirs, engineering constructions, where a density contrast is present. Nuclear emulsions are well suited to be employed in this context for their excellent angular resolution; they are compact and robust detectors, able to work in harsh environments without need of power supply. On the other side, a long exposure time is required for a reasonable detector surface (~10 m 2 ) in order to collect a sufficient statistics of muons, and a quasi-real time analysis of the emulsion data is rather difficult due to the scanning time needed by the optical microscopes. Such drawback is on the way to be overcome thanks to a recent R&D program on ultra-fast scanning systems. Muon radiography technique, even if limited to the summit part of the volcano edifice, represents an important tool of investigation, at higher spatial resolution, complementary to the conventional geophysics techniques. The first successful result in this field was obtained by a Japanese group that observed in 2007 the conduit structure of Mt. Asama. Since 2010, other interesting volcanoes have been probed with the same method: Stromboli in 2011, Mt. Teide in 2012 and La Palma in 2014. Here we discuss the muon imaging technique reporting the nuclear emulsion detector design exposed at Stromboli and results of the data analysis

Osteoimmunology of Spondyloarthritis

: The mechanisms underlying the development of bone damage in the context of spondyloarthritis (SpA) are not completely understood. To date, a considerable amount of evidence indicates that several developmental pathways are crucially involved in osteoimmunology. The present review explores the biological mechanisms underlying the relationship between inflammatory dysregulation, structural progression, and osteoporosis in this diverse family of conditions. we summarize the current knowledge of bone biology and balance and the foundations of bone regulation, including bone morphogenetic protein, the Wnt pathway, and Hedgehog signaling, as well as the role of cytokines in the development of bone damage in SpA. other areas surveyed include the pathobiology of bone damage and systemic bone loss (osteoporosis) in SpA and the effects of pharmacological treatment on focal bone damage. Lastly, we present data relative to a survey of bone metabolic assessment in SpA from Italian bone specialist rheumatology centers. The results confirm that most of the attention to bone health is given to postmenopausal subjects and that the aspect of metabolic bone health may still be underrepresented. In our opinion, it may be the time for a call to action to increase the interest in and focus on the diagnosis and management of SpA

SBDS-Deficient Cells Have an Altered Homeostatic Equilibrium due to Translational Inefficiency Which Explains their Reduced Fitness and Provides a Logical Framework for Intervention

Ribosomopathies are a family of inherited disorders caused by mutations in genes necessary for ribosomal function. Shwachman-Diamond Bodian Syndrome (SDS) is an autosomal recessive disease caused, in most patients, by mutations of the SBDS gene. SBDS is a protein required for the maturation of 60S ribosomes. SDS patients present exocrine pancreatic insufficiency, neutropenia, chronic infections, and skeletal abnormalities. Later in life, patients are prone to myelodisplastic syndrome and acute myeloid leukemia (AML). It is unknown why patients develop AML and which cellular alterations are directly due to the loss of the SBDS protein. Here we derived mouse embryonic fibroblast lines from an SbdsR126T/R126T mouse model. After their immortalization, we reconstituted them by adding wild type Sbds. We then performed a comprehensive analysis of cellular functions including colony formation, translational and transcriptional RNA-seq, stress and drug sensitivity. We show that: 1. Mutant Sbds causes a reduction in cellular clonogenic capability and oncogene-induced transformation. 2. Mutant Sbds causes a marked increase in immature 60S subunits, limited impact on mRNA specific initiation of translation, but reduced global protein synthesis capability. 3. Chronic loss of SBDS activity leads to a rewiring of gene expression with reduced ribosomal capability, but increased lysosomal and catabolic activity. 4. Consistently with the gene signature, we found that SBDS loss causes a reduction in ATP and lactate levels, and increased susceptibility to DNA damage. Combining our data, we conclude that a cell-specific fragile phenotype occurs when SBDS protein drops below a threshold level, and propose a new interpretation of the disease